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    1. Zuccotti, M; Boiani, M; Ponce, R; Guizzardi, S; Scandroglio, R; Garagna, S; Redi, CA
      Mouse Xist expression begins at zygotic genome activation and is timed by a zygotic clock

      MOLECULAR REPRODUCTION AND DEVELOPMENT
    2. Ostrer, H
      Genome and hormones: Gender differences in physiology - Invited review: Sex-based differences in gene expression

      JOURNAL OF APPLIED PHYSIOLOGY
    3. Brown, CJ
      Equality of the sexes: Mammalian dosage compensation

      SEMINARS IN REPRODUCTIVE MEDICINE
    4. Leppig, KA; Disteche, CM
      Ring X and other structural X chromosome abnormalities: X inactivation andphenotype

      SEMINARS IN REPRODUCTIVE MEDICINE
    5. Robinson, WP; Beever, C; Brown, CJ; Stephenson, MD
      Skewed X inactivation and recurrent spontaneous abortion

      SEMINARS IN REPRODUCTIVE MEDICINE
    6. Van den Veyver, IB
      Skewed X inactivation in X-linked disorders

      SEMINARS IN REPRODUCTIVE MEDICINE
    7. Uehara, S; Sato, K; Hashiyada, M; Obara, Y; Matsuzaki, S; Nata, M; Okamura, K
      X chromosome inactivation patterns in 45,X/46,XX mosaics

      JOURNAL OF HUMAN GENETICS
    8. Erdmann, VA; Barciszewska, MZ; Hochberg, A; de Groot, N; Barciszewski, J
      Regulatory RNAs

      CELLULAR AND MOLECULAR LIFE SCIENCES
    9. Vasques, LR; Pereira, LV
      Allele-specific X-linked gene activity in normal human cells assayed by expressed single nucleotide polymorphisms (cSNPs)

      DNA RESEARCH
    10. Nesterova, TB; Slobodyanyuk, SY; Elisaphenko, EA; Shevchenko, AI; Johnston, C; Pavlova, ME; Rogozin, IB; Kolesnikov, NN; Brockdorff, N; Zakian, SM
      Characterization of the genomic Xist locus in rodents reveals conservationof overall gene structure and tandem repeats but rapid evolution of uniquesequence

      GENOME RESEARCH
    11. Paulsen, M; Takada, S; Youngson, NA; Benchaib, M; Charlier, C; Segers, K; Georges, M; Ferguson-Smith, AC
      Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region

      GENOME RESEARCH
    12. Perry, J; Palmer, S; Gabriel, A; Ashworth, A
      A short pseudoautosomal region in laboratory mice

      GENOME RESEARCH
    13. Urnov, FD; Wolffe, AP
      Above and within the genome: Epigenetics past and present

      JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA
    14. Fischer, A
      Primary T-lymphocyte immunodeficiencies

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    15. Jungbluth, AA; King, R; Fisher, DE; Iversen, K; Coplan, K; Kolb, D; Williamson, B; Chen, YT; Stockert, E; Old, LJ; Busam, KJ
      Immunohistochemical and reverse transcription-polymerase chain reaction expression analysis of tyrosinase and microphthalmia-associated transcriptionfactor in angiomyolipomas

      APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY
    16. Diaz-Cano, SJ; Blanes, A; Wolfe, HJ
      PCR techniques for clonality assays

      DIAGNOSTIC MOLECULAR PATHOLOGY
    17. Levy, A
      Monoclonality of endocrine tumours: what does it mean?

      TRENDS IN ENDOCRINOLOGY AND METABOLISM
    18. Lang, A; Good, GW
      Color discrimination in heterozygous deutan carriers

      OPTOMETRY AND VISION SCIENCE
    19. Rosenberg, C; Wouters, CH; Szuhai, K; Dorland, R; Pearson, P; Poll-The, BT; Colombijn, RM; Bruning, M; Lindhout, D
      A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

      EUROPEAN JOURNAL OF HUMAN GENETICS
    20. Nielsen, JB; Henriksen, KF; Hansen, C; Silahtaroglu, A; Schwartz, M; Tommerup, N
      MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

      EUROPEAN JOURNAL OF HUMAN GENETICS
    21. Girard, M; Couvert, P; Carrie, A; Tardieu, M; Chelly, J; Beldjord, C; Bienvenu, T
      Parental origin of de novo MECP2 mutations in Rett syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    22. Matsumoto, N; Leventer, RJ; Kuc, JA; Mewborn, SK; Dudlicek, LL; Ramocki, MB; Pilz, DT; Mills, PL; Das, S; Ross, ME; Ledbetter, DH; Dobyns, WB
      Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    23. Teranishi, M; Shimada, Y; Hori, T; Nakabayashi, O; Kikuchi, T; Macleod, T; Pym, R; Sheldon, B; Solovei, I; Macgregor, H; Mizuno, S
      Transcripts of the MHM region on the chicken Z chromosome accumulate as non-coding RNA in the nucleus of female cells adjacent to the DMRT1 locus

      CHROMOSOME RESEARCH
    24. LaSalle, JM; Goldstine, J; Balmer, D; Greco, CM
      Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

      HUMAN MOLECULAR GENETICS
    25. Wan, MM; Zhao, KJ; Lee, SSJ; Francke, U
      MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome

      HUMAN MOLECULAR GENETICS
    26. Ellaway, C; Christodoulou, J
      Rett syndrome: clinical characteristics and recent genetic advances

      DISABILITY AND REHABILITATION
    27. Romero, NB; De Lonlay, P; Llense, S; Leturcq, F; Touati, G; Urtizberea, JA; Saudubray, JM; Munnich, A; Kaplan, JC; Recan, D
      Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene

      NEUROMUSCULAR DISORDERS
    28. Sado, T; Wang, ZJ; Sasaki, H; Li, E
      Regulation of imprinted X-chromosome inactivation in mice by Tsix

      DEVELOPMENT
    29. Chen, TC; Chou, TB; Ng, KF; Hsieh, LL; Chou, YHW
      Hepatocellular carcinoma associated with focal nodular hyperplasia - Report of a case with clonal analysis

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    30. Lingenfelter, PA; Delbridge, ML; Thomas, S; Hoekstra, HE; Mitchell, MJ; Graves, JAM; Disteche, CM
      Expression and conservation of processed copies of the RBMX gene

      MAMMALIAN GENOME
    31. Agulnik, AI; Harrison, WR; Bishop, CE
      Smcy transgene does not rescue spermatogenesis in sex-reversed mice

      MAMMALIAN GENOME
    32. Karasawa, M; Tsukamoto, N; Yamane, A; Okamoto, K; Maehara, T; Yokohama, A; Nojima, Y; Omine, M
      Analysis of the distribution of CAG repeats and X-chromosome inactivation status of HUMARA gene in healthy female subjects using improved fluorescence-based assay

      INTERNATIONAL JOURNAL OF HEMATOLOGY
    33. Boultwood, J; Wainscoat, JS
      Clonality in the myelodysplastic syndromes

      INTERNATIONAL JOURNAL OF HEMATOLOGY
    34. Tefferi, A
      The pathogenesis of chronic myeloproliferative diseases

      INTERNATIONAL JOURNAL OF HEMATOLOGY
    35. Guo, ZM; Wu, F; Asplund, A; Hu, XR; Mazurenko, N; Kisseljov, F; Ponten, J; Wilander, E
      Analysis of intratumoral heterogeneity of chromosome 3p deletions and genetic evidence of polyclonal origin of cervical squamous carcinoma

      MODERN PATHOLOGY
    36. Chamberlain, SJ; Brannan, CI
      The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a

      GENOMICS
    37. Tada, T; Tada, M
      Toti-/pluripotential stem cells and epigenetic modifications

      CELL STRUCTURE AND FUNCTION
    38. Quintana-Murci, L; Krausz, C; McElreavey, K
      The human Y chromosome: function, evolution and disease

      FORENSIC SCIENCE INTERNATIONAL
    39. Gringras, P; Chen, W
      Mechanisms for differences in monozygous twins

      EARLY HUMAN DEVELOPMENT
    40. Memili, E; Hong, YK; Kim, DH; Ontiveros, SD; Strauss, WM
      Murine Xist RNA isoforms are different at their 3 ' ends: a role for differential polyadenylation

      GENE
    41. Hart, PE; Poynter, GM; Whitehead, CM; Orth, JD; Glantz, JN; Busby, RC; Barrett, SL; Salisbury, JL
      Characterization of the X-linked murine centrin Cetn2 gene

      GENE
    42. Yool, DA; Klugmann, M; McLaughlin, M; Vouyiouklis, DA; Dimou, L; Barrie, JA; McCulloch, MC; Nave, KA; Griffiths, IR
      Myelin proteolipid proteins promote the interaction of oligodendrocytes and axons

      JOURNAL OF NEUROSCIENCE RESEARCH
    43. Ishihara, H; Kanda, F; Nishio, H; Sumino, K; Chihara, K
      Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy

      JOURNAL OF NEUROLOGY
    44. Solari, AJ; Rahn, IM; Ferreyra, ME; Carballo, MA
      The behavior of sex chromosomes in two human X-autosome translocations: Failure of extensive x-inactivation spreading

      BIOCELL
    45. Monk, M; Salpekar, A
      Expression of imprinted genes in human preimplantation development

      MOLECULAR AND CELLULAR ENDOCRINOLOGY
    46. Hui, P; Perkins, AS; Glusac, EJ
      Assessment of clonality in melanocytic nevi

      JOURNAL OF CUTANEOUS PATHOLOGY
    47. Shih, LY; Lin, TL; Dunn, P; Wu, JH; Tseng, CP; Lai, CL; Wang, PN; Kuo, MC
      Clonality analysis using X-chromosome inactivation patterns by HUMARA-PCR assay in female controls and patients with idiopathic thrombocytosis in Taiwan

      EXPERIMENTAL HEMATOLOGY
    48. Waters, PD; Duffy, B; Frost, CJ; Delbridge, ML; Graves, JAM
      The human Y chromosome derives largely from a single autosomal region added to the sex chromosomes 80-130 million years ago

      CYTOGENETICS AND CELL GENETICS
    49. Van Pottelbergh, I; Lumbroso, S; Goemaere, S; Sultan, C; Kaufman, JM
      Lack of influence of the androgen receptor gene CAG-repeat polymorphism onsex steroid status and bone metabolism in elderly men

      CLINICAL ENDOCRINOLOGY
    50. Luikenhuis, S; Wutz, A; Jaenisch, R
      Antisense transcription through the Xist locus mediates Tsix function in embryonic stem cells

      MOLECULAR AND CELLULAR BIOLOGY
    51. Carlone, DL; Skalnik, DG
      CpG binding protein is crucial for early embryonic development

      MOLECULAR AND CELLULAR BIOLOGY
    52. Tefferi, A; Murphy, S
      Current opinion in essential thrombocythemia: pathogenesis, diagnosis, andmanagement

      BLOOD REVIEWS
    53. Yamane, A; Karasawa, M; Maeharal, T; Tsukamoto, N; Nojima, Y
      X chromosome methylation-based chimerism assay for sex-mismatched hematopoietic stem cell transplantation

      BONE MARROW TRANSPLANTATION
    54. Suzuki, Y; Sasagawa, I; Tateno, T; Ashida, J; Nakada, T; Muroya, K; Ogata, T
      Mutation screening and CAG repeat length analysis of the androgen receptorgene in Klinefelter's syndrome patients with and without spermatogenesis

      HUMAN REPRODUCTION
    55. Rakyan, VK; Preis, J; Morgan, HD; Whitelaw, E
      The marks, mechanisms and memory of epigenetic states in mammals

      BIOCHEMICAL JOURNAL
    56. Monk, M
      Of microbes, mice and man

      INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY
    57. Shastry, BS
      Molecular genetics of Rett syndrome

      NEUROCHEMISTRY INTERNATIONAL
    58. Uehara, S; Hanew, K; Harada, N; Yamamori, S; Nata, M; Niikawa, N; Okamura, K
      Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature

      AMERICAN JOURNAL OF MEDICAL GENETICS
    59. Ogata, T; Matsuo, M; Muroya, K; Koyama, Y; Fukutani, K
      47,XXX male: A clinical and molecular study

      AMERICAN JOURNAL OF MEDICAL GENETICS
    60. Iitsuka, Y; Bock, A; Nguyen, DD; Samango-Sprouse, CA; Simpson, JL; Bischoff, FZ
      Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    61. Khalifa, MM; Struthers, JL; Maurice, S; Harrison, K; Duncan, AMV
      Methylation of HpaII site at the human DXS16 locus on Xp22 as an assay forabnormal patterns of X inactivation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    62. Rivero, MB; Olicio, R; Lima, CR; Bonvicino, CR; Moreira, MAM; Llerena, JC; Seuanez, HN
      Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrierof an HPRT1 mutation responsible for Lesch-Nyhan syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    63. Cheng, L; Gu, RA; Eble, JN; Bostwick, DG; Younger, C; MacLennan, GT; Abdul-Karim, FW; Geary, WA; Koch, MO; Zhang, SB; Ulbright, TM
      Molecular genetic evidence for different clonal origin of components of human renal angiomyolipomas

      AMERICAN JOURNAL OF SURGICAL PATHOLOGY
    64. Jordan, JH; Fritsche-Polanz, R; Sperr, WR; Mitterbauer, G; Fodinger, M; Schernthaner, GH; Bankl, HC; Gebhart, W; Chott, A; Lechner, K; Valent, P
      A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val

      LEUKEMIA RESEARCH
    65. Tefferi, A
      Recent progress in the pathogenesis and management of essential thrombocythemia

      LEUKEMIA RESEARCH
    66. Whybra, C; Kampmann, C; Willers, I; Davies, J; Winchester, B; Kriegsmann, J; Bruhl, K; Gal, A; Bunge, S; Beck, M
      Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes

      JOURNAL OF INHERITED METABOLIC DISEASE
    67. Kochhar, HPS; Peippo, J; King, WA
      Sex related embryo development

      THERIOGENOLOGY
    68. Lamb, DJ; Weigel, NL; Marcelli, M
      Androgen receptors and their biology

      VITAMINS AND HORMONES - ADVANCES IN RESEARCH AND APPLICATIONS, VOL 62
    69. Diaz-Cano, SJ; De Miguel, M; Blanes, A; Galera, H; Wolfe, HJ
      Contribution of the microvessel network to the clonal and kinetic profilesof adrenal cortical proliferative lesions

      HUMAN PATHOLOGY
    70. Auranen, M; Vanhala, R; Vosman, M; Levander, M; Varilo, T; Hietala, M; Riikonen, R; Peltonen, L; Jarvela, I
      MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features

      NEUROLOGY
    71. Hoffbuhr, K; Devaney, JM; LaFleur, B; Sirianni, N; Scacheri, C; Giron, J; Schuette, J; Innis, J; Marino, M; Philippart, M; Narayanan, V; Umansky, R; Kronn, D; Hoffman, EP; Naidu, S
      MeCP2 mutations in children with and without the phenotype of Rett syndrome

      NEUROLOGY
    72. Surani, MA
      Reprogramming of genome function through epigenetic inheritance

      NATURE
    73. Heim, S; Teixeira, MAR; Pandis, N
      Are some breast carcinomas polyclonal in origin?

      JOURNAL OF PATHOLOGY
    74. Going, JJ; El-Monem, HMA; Craft, JA
      Clonal origins of human breast cancer

      JOURNAL OF PATHOLOGY
    75. Diallo, R; Schaefer, KL; Poremba, C; Shivazi, N; Willmann, V; Buerger, H; Dockhorn-Dworniczak, B; Boecker, W
      Monoclonality in normal epithelium and in hyperplastic and neoplastic lesions of the breast

      JOURNAL OF PATHOLOGY
    76. Villard, L; Levy, N; Xiang, FQ; Kpebe, A; Labelle, V; Chevillard, C; Zhang, ZP; Schwartz, CE; Tardieu, M; Chelly, J; Anvret, M; Fontes, M
      Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease

      JOURNAL OF MEDICAL GENETICS
    77. Costello, JF; Plass, C
      Methylation matters

      JOURNAL OF MEDICAL GENETICS
    78. Asplund, A; Guo, ZM; Hu, XR; Wassberg, C; Ponten, F
      Mosaic pattern of maternal and paternal keratinocyte clones in normal human epidermis revealed by analysis of X-chromosome inactivation

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    79. Nakamura, H; Hirota, S; Adachi, S; Ozaki, K; Asada, H; Kitamura, Y
      Clonal nature of seborrheic keratosis demonstrated by using the polymorphism of the human androgen receptor locus as a marker

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    80. Boye, E; Yu, Y; Paranya, G; Mulliken, JB; Olsen, BR; Bischoff, J
      Clonality and altered behavior of endothelial cells from hemangiomas

      JOURNAL OF CLINICAL INVESTIGATION
    81. Diaz-Cano, SJ; de Miguel, M; Blanes, A; Tashjian, R; Wolfe, HJ
      Germline RET 634 mutation positive MEN 2A-related C-cell hyperplasias havegenetic features consistent with intraepithelial neoplasia

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    82. Chadwick, BP; Willard, HF
      A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome

      JOURNAL OF CELL BIOLOGY
    83. Burritt, JB; DeLeo, FR; McDonald, CL; Prigge, JR; Dinauer, MC; Nakamura, M; Nauseef, WM; Jesaitis, AJ
      Phage display epitope mapping of human neutrophil flavocytochrome b(558) -Identification of two juxtaposed extracellular domains

      JOURNAL OF BIOLOGICAL CHEMISTRY
    84. Chen, CC; Fang, M; Majumder, A; Wu, HY
      A 72-base pair AT-rich DNA sequence element functions as a bacterial gene silencer

      JOURNAL OF BIOLOGICAL CHEMISTRY
    85. Lucarelli, M; Fuso, A; Strom, R; Scarpa, S
      The dynamics of myogenin site-specific demethylation is strongly correlated with its expression and with muscle differentiation

      JOURNAL OF BIOLOGICAL CHEMISTRY
    86. Lebrun, E; Revardel, E; Boscheron, C; Li, R; Gilson, E; Fourel, G
      Protosilencers in Saccharomyces cerevisiae subtelomeric regions

      GENETICS
    87. Uehara, S; Hashiyada, M; Sato, K; Sato, Y; Fujimori, K; Okamura, K
      Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss

      FERTILITY AND STERILITY
    88. Mermoud, JE; Tassin, AM; Pehrson, JR; Brockdorff, N
      Centrosomal association of histone macroH2A1.2 in embryonic stem cells andsomatic cells

      EXPERIMENTAL CELL RESEARCH
    89. Nesterova, TB; Barton, SC; Surani, MA; Brockdorff, N
      Loss of Xist imprinting in diploid parthenogenetic preimplantation embryos

      DEVELOPMENTAL BIOLOGY
    90. Gray, BA; Bent-Williams, A; Wolff, DJ; Zori, RT
      A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX

      CLINICAL GENETICS
    91. Izawa, T; Obara, T; Tanno, S; Mizukami, Y; Yanagawa, N; Kohgo, Y
      Clonality and field cancerization in intraductal papillary-mutinous tumorsof the pancreas

      CANCER
    92. Krepischi-Santos, ACV; Carneiro, JDA; Svartman, M; Bendit, I; Odone, V; Vianna-Morgante, AM
      Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B

      BRITISH JOURNAL OF HAEMATOLOGY
    93. Holt, I; Clements, L; Manilal, S; Morris, GE
      How does a g993t mutation in the emerin gene cause Emery-Dreifuss musculardystrophy?

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    94. Lanasa, MC; Hogge, WA; Kubik, CJ; Ness, RB; Harger, J; Nagel, T; Prosen, T; Markovic, N; Hoffman, EP
      A novel X chromosome-linked genetic cause of recurrent spontaneous abortion

      AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
    95. Niida, Y; Stemmer-Rachamimov, AO; Logrip, M; Tapon, D; Perez, R; Kwiatkowski, DJ; Sims, K; MacCollin, M; Louis, DN; Ramesh, V
      Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomassuggests different genetic mechanisms for pathogenesis of TSC lesions

      AMERICAN JOURNAL OF HUMAN GENETICS
    96. Robertson, SP; Walsh, S; Oldridge, M; Gunn, T; Becroft, D; Wilkie, AOM
      Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1

      AMERICAN JOURNAL OF HUMAN GENETICS
    97. Trappe, R; Laccone, F; Cobilanschi, J; Meins, M; Huppke, P; Hanefeld, F; Engel, W
      MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

      AMERICAN JOURNAL OF HUMAN GENETICS
    98. Jacobs, N; Van Gestel, S; Derom, C; Thiery, E; Vernon, P; Derom, R; Vlietinck, R
      Heritability estimates of intelligence in twins: Effect of chorion type

      BEHAVIOR GENETICS
    99. Volleth, M; Stumm, M; Mohnike, K; Kalscheuer, VM; Jakubiczka, S; Wieacker, P
      Preferential inactivation of a dupX(q23 -> q27-28) chromosome in a girl with mental retardation and dysmorphy

      HUMAN HEREDITY
    100. Gu, J; Roth, LM; Younger, C; Michael, H; Abdul-Karim, FW; Zhang, SB; Ulbright, TM; Eble, JN; Cheng, L
      Molecular evidence for the independent origin of extra-ovarian papillary serous tumors of low malignant potential

      JOURNAL OF THE NATIONAL CANCER INSTITUTE


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Documento generato il 20/01/21 alle ore 08:12:03